ClinVar Miner

List of variants in gene PEX6 studied for Peroxisome biogenesis disorder 4B

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Total variants: 7
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HGVS dbSNP
NM_000287.3(PEX6):c.1314_1321delGGAGGCCT (p.Glu439Glyfs) rs267608216
NM_000287.3(PEX6):c.1601T>C (p.Leu534Pro) rs387906809
NM_000287.3(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.3(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.3(PEX6):c.619_882del (p.Val207_Gln294del) rs1554128347
NM_000287.3(PEX6):c.821C>T (p.Pro274Leu) rs61753219
PEX6, 269-BP DEL/21-BP INS

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